Variant report

Variant	rs62041308
Chromosome Location	chr16:79785464-79785465
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:79780045..79782681-chr16:79783424..79786926,3	K562	blood:
2	chr16:79762471..79764929-chr16:79784561..79786086,2	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs12443838	0.85[ASN][1000 genomes]
rs17690030	0.83[EUR][1000 genomes]
rs28414130	0.83[EUR][1000 genomes]
rs28687312	0.83[EUR][1000 genomes]
rs4313818	0.85[ASN][1000 genomes]
rs4458007	0.83[EUR][1000 genomes]
rs55981441	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs55993612	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56006814	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56052219	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56119147	0.83[EUR][1000 genomes]
rs62041260	0.83[EUR][1000 genomes]
rs62041303	0.83[EUR][1000 genomes]
rs62041304	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62041307	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62041309	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62041310	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62041311	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62041312	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62041313	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62041316	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62041317	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62041318	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62041319	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62041320	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62041323	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62041324	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62041325	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62041326	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62041327	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62041339	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62041344	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62041345	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs62041346	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62041347	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62041348	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62041349	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs62043341	0.83[AFR][1000 genomes]
rs62043342	0.83[AFR][1000 genomes]
rs62043343	0.83[AFR][1000 genomes]
rs62043344	1.00[AFR][1000 genomes]
rs62043346	0.83[EUR][1000 genomes]
rs62043347	0.83[EUR][1000 genomes]
rs62043348	0.83[EUR][1000 genomes]
rs62043349	0.83[EUR][1000 genomes]
rs62043352	0.83[EUR][1000 genomes]
rs62043353	0.83[EUR][1000 genomes]
rs62043354	0.83[EUR][1000 genomes]
rs62043355	0.83[EUR][1000 genomes]
rs62043356	0.83[EUR][1000 genomes]
rs62043357	0.83[EUR][1000 genomes]
rs62043358	0.83[AFR][1000 genomes]
rs62043359	0.83[EUR][1000 genomes]
rs7187139	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8053535	0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv573285	chr16:79158182-80127326	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv530714	chr16:79661581-79925435	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv833296	chr16:79692236-79889727	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv833297	chr16:79732501-79920419	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	esv2755409	chr16:79776699-79816299	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:79772600-79785600	Weak transcription	Fetal Lung	lung
2	chr16:79783600-79788400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr16:79783600-79789000	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr16:79783800-79786600	Weak transcription	Fetal Thymus	thymus
5	chr16:79784000-79787200	Weak transcription	Lung	lung
6	chr16:79784200-79786800	Enhancers	Fetal Muscle Leg	muscle
7	chr16:79784400-79786000	Weak transcription	Colon Smooth Muscle	Colon
8	chr16:79785000-79785600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr16:79785000-79786200	Enhancers	Fetal Stomach	stomach
10	chr16:79785000-79786800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr16:79785000-79787200	Enhancers	HMEC	breast
12	chr16:79785000-79787200	Enhancers	NHEK	skin
13	chr16:79785000-79788200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr16:79785000-79788600	Enhancers	NHDF-Ad	bronchial
15	chr16:79785000-79789200	Enhancers	Fetal Intestine Small	intestine
16	chr16:79785000-79789400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr16:79785200-79786200	Enhancers	Rectal Smooth Muscle	rectum
18	chr16:79785200-79789200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr16:79785200-79789200	Enhancers	Fetal Intestine Large	intestine
20	chr16:79785400-79786200	Enhancers	Adipose Nuclei	Adipose
21	chr16:79785400-79788400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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